| Variant ID | 875 |
|---|---|
| Entrez Gene ID | 23504 |
| Gene | RIMBP2 (GeneCards) |
| Location | hg19 12:130897174-130897174
hg38 12:130412629-130412629 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.130897174 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 937 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4634 |
| CADD Raw score (version 1.3) | 1.47052 (Deleterious) |
| FATHMM raw prediction score | 0.97627 (Tolerated) |
| Deleterious probability by DeFine | 0.8635 (Deleterious) |
| Entrez Gene ID | 23504 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RIMBP2 (GeneCards) |
| Number of variants in RIMBP2 in this database | 10 (view all the variants) |
| Full name | RIMS binding protein 2 |
| Band | 12q24.33 |
| Other IDs | Vega: OTTHUMG00000168385 OMIM: 611602 HGNC: HGNC:30339 Ensembl: ENSG00000060709 |
| Other names | RBP2, RIM-BP2, PPP1R133 |
| Summary | None |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |